Homo sapiens cDNA FLJ52421 complete cds, highly similar to Myotilin

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A novel in-frame deletion in MYOT causes an early adult onset distal myopathy. [Clin Genet. 2023]
A novel in-frame deletion in MYOT causes an early adult onset distal myopathy.
Guglielmi V, Pancheri E, Cannone E, Nigro V, Malatesta M, Vettori A, Giorgetti A, Torella A, Aurino S, Cisterna B, et al. Clin Genet. 2023 Dec; 104(6):705-710. Epub 2023 Aug 8.
Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish. [Int J Mol Sci. 2023]
Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish.
Cannone E, Guglielmi V, Marchetto G, Tobia C, Gnutti B, Cisterna B, Tonin P, Barbon A, Vattemi G, Schiavone M. Int J Mol Sci. 2023 Jul 14; 24(14). Epub 2023 Jul 14.
Silencing MYOT Expression May Inhibit Autophagy in Human Skeletal Muscle Cells. [Dis Markers. 2023]
Silencing MYOT Expression May Inhibit Autophagy in Human Skeletal Muscle Cells.
Lin ZJ, Xu JM, Ji HY, Jiang YQ, Su J, Fan LL, Yu R. Dis Markers. 2023; 2023:3350685. Epub 2023 Feb 2.

RefSeq alternative splicing
See 5 reference mRNA sequence splice variants for the MYOT gene.

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Nucleotide